Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis

N. H. Miller, B. Mims, A. Child, D. M. Milewicz, P. Sponseller, Susan H Blanton

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

Adolescent idiopathic scoliosis is a genetic disorder of unknown etiology. Scoliosis is a clinical feature of inherited connective-tissue disorders including Marfan syndrome. Mutations within the gent of FBN1 (fibrillin 15), a component of the extracellular matrix, are now linked to Marfan syndrome and similar clinical phenotypes. This study investigated the potential association of structural genes encoding for extracellular matrix components of FBN1, elastin, and one of the polypeptides of type-1 collagen (COL1A2) with familial adolescent idiopathic scoliosis. Eleven pedigrees, including 96 individuals, were identified in which adolescent idiopathic scoliosis segregated in an apparent autosomal dominant pattern. Fifty-two individuals were determined to be affected with scoliosis. Genomic DNA was analyzed by genetic linkage utilizing four intragenic markets for the structural genes of FBN1, elastin, and COL1A2. Collectively, our results exclude the structural genes of FBN1, elastin, and COL1A2 as candidate genes within these families. However, when viewed individually, specific markers cannot be excluded within all of the families. This information complements previously reported data that fibrillin production and matrix incorporation from scoliotic fibroblasts in vitro are normal in more than 80% of patients studied.

Original languageEnglish
Pages (from-to)994-999
Number of pages6
JournalJournal of Orthopaedic Research
Volume14
Issue number6
DOIs
StatePublished - Dec 1 1996
Externally publishedYes

Fingerprint

Elastic Tissue
Scoliosis
Collagen
Elastin
Marfan Syndrome
Genes
Extracellular Matrix
Inborn Genetic Diseases
Genetic Linkage
Pedigree
Collagen Type I
Connective Tissue
Fibroblasts
Fibrillins
Phenotype
Peptides
Mutation
DNA
alpha 2(I) collagen

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine

Cite this

Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis. / Miller, N. H.; Mims, B.; Child, A.; Milewicz, D. M.; Sponseller, P.; Blanton, Susan H.

In: Journal of Orthopaedic Research, Vol. 14, No. 6, 01.12.1996, p. 994-999.

Research output: Contribution to journalArticle

Miller, N. H. ; Mims, B. ; Child, A. ; Milewicz, D. M. ; Sponseller, P. ; Blanton, Susan H. / Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis. In: Journal of Orthopaedic Research. 1996 ; Vol. 14, No. 6. pp. 994-999.
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